Endocrine Abstracts

Case history: We present a case of a 34-year-old male diagnosed with bilateral gynecomastia referred to the endocrine clinic. Notable background of left cryptorchidism with orchidopexy at the age of 15, delayed puberty, chronic testicular pain and atopic dermatitis. On examination he had short stature, hypertelorism, low set ears, broad short hands, brachydactyly and clinodactyly of 5th fingers. There was no evidence of cleft lip/palate, teeth abnormalities or inguinal/abdominal hernias. Family history of Aarskog syndrome in multiple male family members including nephews who needed orchidopexy in childhood.

Investigations: Biochemistry was suggestive of a primary hypogonadism picture with low-normal testosterone levels 8.7 nmol/l (6.9 – 23.2) high FSH 25.2 iu/L (1.4–18.1) and borderline-high LH 8.3 iu/L (1.5 – 9.3). Normal oestradiol and prolactin levels. US testes confirmed bilateral small testicles. US breast was normal.

Results and treatment: The patient did not himself recollect being formally diagnosed with Aarskog Syndrome, but his childhood records confirmed that this diagnosis had been made. We have referred him to clinical genetics to explain the condition to him in more detail and its associations. A DEXA scan revealed a low Z score for his age, and we commenced him on vitamin D and calcium supplementation. His echocardiogram was unremarkable. Patient was advised for regular dental checks. He has also been referred to the andrology department for sperm assessment and banking in advance of testosterone supplementation.

Conclusions and points for discussion: Aarskog syndrome also known as faciodigitogenital syndrome is a rare and underdiagnosed X linked recessive genetic disorder only discovered in 1970. The prevalence estimates are thought to be 0.4 per million. 20% of cases implicate FDG1 gene variants and runs in families with male predominance though there are reports of females with milder phenotypes. Diagnosis is by the characteristic combination of short stature, facial, skeletal and genital anomalies and can be supported genetically. Clinical features can also involve dental and cardiac abnormalities and mild learning/behavioural impairment often confined to childhood. This abstract aims to prompt clinicians to consider Aarskog syndrome in patients who present with the triad of facio-digito-genital symptoms. Timely diagnosis can trigger screening for associated abnormalities, genetic counselling and treatment.